EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
- Kuipers, D. (Demy)
- Mandemakers, W.J. (Wim)
- Lu, C.-S. (Chin-Song)
- Olgiati, S. (Simone)
- Breedveld, G.J. (Guido)
- Fevga, C. (Christina)
- Tadic, V. (Vera)
- Carecchio, M. (Miryam)
- Osterman, B. (Bradley)
- Sagi-Dain, L. (Lena)
- Wu-Chou, Y.H. (Yah-Huei)
- Chen, C.C. (Chiung C.)
- Chang, H.C. (Hsiu-Chen)
- Wu, S.-L. (Shey-Lin)
- Yeh, T.-H. (Tu-Hsueh)
- Weng, Y.H. (Yi Hsin)
- Elia, A.E. (Antonio E.)
- Panteghini, C. (Celeste)
- Marotta, N. (Nicolas)
- Pauly, M.G. (Martje G.)
- Kühn, A.A. (Andrea A.)
- Volkmann, J. (Jens)
- Lace, B. (Baiba)
- Meijer, I.A. (Inge A.)
- Kandaswamy, K. (Krishna)
- Quadri, M. (Marialuisa)
- Garavaglia, B. (Barbara)
- Lohmann, K. (Katja)
- Bauer, P. (Peter)
- Mencacci, N.E. (Niccolo)
- Lubbe, S.J. (Steven J.)
- Klein, C. (Christoph)
- Bertoli Avella, A.M. (Aida)
- Bonifati, V. (Vincenzo)
DOIAbstract
Objective: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods: Methods consisted of genome-wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, and protein expression studies in skin fibroblasts from patients. Results: We identified a heterozygous variant, c.388G>A, p.Gly130Arg, in the eukaryotic tr
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